nsv481697
- Organism: Homo sapiens
- Study:nstd36 (Mitsui et al. 2010)
- Variant Type:copy number variation
- Method Type:Oligo aCGH, Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:114,980
- Publication(s):Mitsui et al. 2010
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 790 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 790 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 220 SVs from 20 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv481697 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 161,882,285 | 161,997,264 |
nsv481697 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 162,303,317 | 162,418,296 |
nsv481697 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 162,223,307 | 162,338,286 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
---|---|---|---|---|---|---|
nssv649977 | duplication | Oligo aCGH, Sequencing | Probe signal intensity, Sequence alignment | Parkinsonian Disorders | Pathogenic | Submitter |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv649977 | Remapped | Perfect | NC_000006.12:g.161 882285_161997264du p | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 161,882,285 | 161,997,264 |
nssv649977 | Remapped | Perfect | NC_000006.11:g.162 303317_162418296du p | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 162,303,317 | 162,418,296 |
nssv649977 | Submitted genomic | NC_000006.10:g.162 223307_162338286du p | NCBI36 (hg18) | NC_000006.10 | Chr6 | 162,223,307 | 162,338,286 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
---|---|---|---|---|---|
nssv649977 | NCBI36: NC_000006.10:g.162223307_162338286dup | duplication | Parkinsonian Disorders | Pathogenic | Submitter |